PheWAS-ME: a web-app for interactive exploration of multimorbidity patterns in PheWAS
PheWAS-ME: a web-app for interactive exploration of multimorbidity patterns in PheWAS
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DOI：
10.1093/bioinformatics/btaa870
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发表时间：
2021-06-15
期刊：
影响因子：
5.8
通讯作者：
Xu, Yaomin
中科院分区：
文献类型：
--
作者：
Strayer, Nick;Shirey-Rice, Jana K.;Xu, Yaomin
电子健康记录（EHRs）与DNA生物库相关联，为精准医学的生物医学研究提供了前所未有的机会。全表型关联研究（PheWAS）是一种广泛使用的技术，用于评估遗传变异与电子病历中记录的大量临床表型之间的关系。PheWAS分析通常以静态表格和图表的形式呈现，这些表格和图表是从遗传变异和个体表型之间的关联的统计测试中获得的汇总统计数据。合并症很常见，通常会导致复杂的、多变量的基因-疾病关联信号，这些信号很难解释。发现和询问多发病模式及其在PheWAS中的影响是困难和耗时的。我们提出PheWAS- me：一个交互式仪表板，将个人水平的基因型和表型数据与PheWAS分析结果并列可视化，允许研究人员探索多发病模式及其与感兴趣的遗传变异的关联。我们期望这个应用程序通过阐明数据中存在的临床多病模式来丰富PheWAS分析。
Electronic health records (EHRs) linked with a DNA biobank provide unprecedented opportunities for biomedical research in precision medicine. The Phenome-wide association study (PheWAS) is a widely used technique for the evaluation of relationships between genetic variants and a large collection of clinical phenotypes recorded in EHRs. PheWAS analyses are typically presented as static tables and charts of summary statistics obtained from statistical tests of association between a genetic variant and individual phenotypes. Comorbidities are common and typically lead to complex, multivariate gene-disease association signals that are challenging to interpret. Discovering and interrogating multimorbidity patterns and their influence in PheWAS is difficult and time-consuming. We present PheWAS-ME: an interactive dashboard to visualize individual-level genotype and phenotype data side-by-side with PheWAS analysis results, allowing researchers to explore multimorbidity patterns and their associations with a genetic variant of interest. We expect this application to enrich PheWAS analyses by illuminating clinical multimorbidity patterns present in the data.